Alessandro Filla

Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

Victoria Campuzano, Laura Montermini, María Dolores Moltó et al. · Science · 1996 · 2.7K citations

Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes

Mireille Coss�e, Alexandra D�rr, Mich�le Schmitt et al. · Annals of Neurology · 1999 · 382 citations

Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study

Heike Jacobi, Sophie Tézenas du Montcel, Peter Bauer et al. · The Lancet Neurology · 2015 · 286 citations

Longitudinal Cohort Study, Neurological Disorder, Long-term Disease Progression +4

Spinocerebellar ataxia types 1, 2, 3, and 6

T. Schmitz‐Hübsch, Mathieu Coudert, Peter Bauer et al. · Neurology · 2008 · 272 citations

The natural history of spinocerebellar ataxia type 1, 2, 3, and 6

Heike Jacobi, Peter Bauer, Paola Giunti et al. · Neurology · 2011 · 226 citations · Full text